Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.142143355C>T , CM000667.2:g.142143355C>T | GRCh38 |
| NC_000005.9:g.141522920C>T , CM000667.1:g.141522920C>T | GRCh37 |
| NC_000005.8:g.141503104C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253814.6:c.563-1216C>T MANE Select | ENSP00000253814.3:n.563-1216C>T | |
| ENST00000253814.5:c.563-1216C>T | ENSP00000253814.3:n.563-1216C>T | |
| ENST00000503388.1:n.378C>T | ||
| NM_030571.3:c.563-1216C>T | NP_085048.1:n.563-1216C>T | |
| NM_030571.4:c.563-1216C>T MANE Select | NP_085048.1:n.563-1216C>T |